title: Cloning and characterization of cDNAs and the gene encoding the mouse platelet-activating factor acetylhydrolase Ib alpha subunit/lissencephaly-1 protein.
abstract: Platelet-activating factor acetylhydrolases (PAF-AHs) play an important role in the metabolism of PAF, a potent phospholipid mediator affecting various physiological processes. The heterotrimeric form of intracellular PAF-AH consists of two catalytic subunits (PAF-AH Ib beta and PAF-AH Ib gamma) and a potential regulatory subunit (PAF-AH Ib alpha). Hemizygous deletion of the gene encoding the alpha subunit has been implicated in two related neurological disorders: isolated lissencephaly sequence and Miller-Dieker syndrome. Here we report the isolation and characterization of mouse Pafaha/Lis1 cDNAs and the corresponding Pafaha/Lis1 gene. We have cloned five cDNAs representing alternatively polyadenylated messages. Northern blot analysis revealed that the various Pafaha/Lis1 mRNAs are differentially expressed in mouse tissues. The Pafaha/Lis1 gene spans a genomic region of more than 50 kb and consists of 12 exons, the first 2 of which are embedded in CpG islands. We have identified two sites of alternative splicing of Pafaha/Lis1: one affecting the length of the 5' untranslated region, the other potentially resulting in a truncated form of the encoded protein.
authors.affiliation: Department of Biomedical Science, Amgen, Inc., Thousand Oaks, California 91320, USA. mpeterfy@amgen.com
authors.forename: M
authors.initials: M
authors.lastname: Péterfy
authors.forename: T
authors.initials: T
authors.lastname: Gyuris
authors.forename: D
authors.initials: D
authors.lastname: Grosshans
authors.forename: C C
authors.initials: CC
authors.lastname: Cuaresma
authors.forename: L
authors.initials: L
authors.lastname: Takács
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D017398:Alternative Splicing; D000818:Animals; D001921:Brain / Q000378:metabolism; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000737:chemistry* / Q000302:isolation & purification*; D005091:Exons; D007438:Introns; D051379:Mice; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D010741:Phospholipases A / Q000737:chemistry / Q000235:genetics*; D010972:Platelet Activating Factor / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018076:DNA, Complementary; D008869:Microtubule-Associated Proteins; D010972:Platelet Activating Factor; D011506:Proteins; D010741:Phospholipases A; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C513190:Pafah1b1 protein, mouse